A Tale of Two Conditions: Pediatric Brugada Syndrome Unveiled-Navigating the Challenges of Coexisting Arrhythmia and Fever-Induced ECG Pattern.

Background: Brugada syndrome (BrS) is an inherited channelopathy characterized by right precordial ST-segment elevation. This study investigates the clinical and genetic characteristics of children with BrS in Hong Kong.

Methods: A retrospective review was conducted at the only tertiary pediatric cardiology center in Hong Kong from 2002 to 2022, including all pediatric BrS patients under 18 years old.

Feasibility of contrast-enhanced ultrasound in confirming intranodal needle position for dynamic contrast-enhanced magnetic resonance lymphangiography in children.

This report demonstrates the feasibility and safety of using contrast-enhanced ultrasound (CEUS) to confirm intranodal needle position in children requiring dynamic contrast-enhanced magnetic resonance lymphangiography (DCMRL). A total of 7 patients were evaluated using CEUS after nodal puncture on a detachable magenetic resonance table, with 2 nodes cannulated in each patient, resulting in a combined evaluation of 14 nodes. The nodal cannulation success rate using CEUS was 85.

Evaluating High-Confidence Genes in Conotruncal Cardiac Defects by Gene Burden Analyses.

Background In nonsyndromic conotruncal cardiac defects, the use of next-generation sequencing for clinical diagnosis is increasingly adopted, but gene-disease associations in research are only partially translated to diagnostic panels, suggesting a need for evidence-based consensus. Methods and Results In an exome data set of 245 patients with conotruncal cardiac defects, we performed burden analysis on a high-confidence congenital heart disease gene list (n=132) with rare (<0.01%) and ultrarare (absent in the Genome Aggregation Database) protein-altering variants.

Single-pass albumin dialysis and hemoadsorption for bilirubin and bile acids removal for a child with hyperbilirubinemia after ventricular assist device implantation.

We report the successful management of hyperbilirubinemia using two different modalities of extracorporeal bilirubin removal therapy for a pediatric patient. A 13-year-old boy with dilated cardiomyopathy requiring veno-arterial extracorporeal membrane oxygenation (VA-ECMO) developed acute kidney injury and was dependent on continuous renal replacement therapy. He developed hyperbilirubinemia with a peak total bilirubin level of 786 μmol/L after implantation of biventricular assist device (BiVAD).

Emerging roles of left ventricular assist device therapy as bridge to transplant in an Asian city with scarce heart transplant donor.

Background: Left ventricular assist device (LVAD) has been increasingly used in patients with advanced heart failure. This study aimed to assess the impact of implementation of LVAD therapy on heart transplantation (HTx) service in Hong Kong (HK).

Methods: LVAD program was started in 2010 in HK and patients who had been put on HTx waiting list since the start of HTx program in HK from 1992 to 2020 were included for analysis.

Successful Treatment of Rhabdomyolysis-Associated Acute Kidney Injury with Haemoadsorption and Continuous Renal Replacement Therapy.

We report two children with rhabdomyolysis-associated acute kidney injury who were successfully treated with a haemoadsorption column CytoSorb® in addition to continuous renal replacement therapy (CRRT). A 14-year-old girl with multiorgan failure requiring extracorporeal membrane oxygenation developed rhabdomyolysis due to reperfusion injury. Her creatine kinase (CK) and lactate levels continued to escalate despite high-dose CRRT.

Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.

Background: Rapid whole-exome sequencing (rWES) offers the potential for early diagnosis-predicated precision medicine. Previous evidence focused predominantly on infants from the intensive care unit (ICU). This study sought to examine the diagnostic and clinical utility, and the economic impact on clinical management of rWES in patients beyond infancy and ICU setting.

Migrated Avalon-Elite cannula in an infant transcatheter repositioning without interruption of ECMO flow.

Inadvertent migration of Avalon-Elite cannula in patients receiving veno-venous extracorporeal membrane oxygenation (VV-ECMO) support is often difficult to manage. Cannula repositioning conventionally requires temporary discontinuation of the ECMO support which is often poorly tolerated in small infants with poor pulmonary reserve. We reported a case of a small infant weighing 3.

Long term CentriMag biventricular support using hybrid cannulation as a bridge to transplant in a pediatric patient.

Paracorporeal continuous-flow ventricular assist devices designed for short-term support can also potentially provide long-term circulatory support as bridges to transplantation in children. We describe the long-term use of the CentriMag biventricular assist device with multiple pump changes in a 9-year-old boy with idiopathic-dilated cardiomyopathy. The initially implanted Berlin Heart EXCOR pumps were replaced by CentriMag due to thromboembolic complications.

Pediatric ventricular assist device therapy for advanced heart failure-Hong Kong experience.

Ventricular assist devices (VADs) are life-saving options for children with heart failure unresponsive to medical therapy as a bridge to transplantation or cardiac recovery. We present a retrospective review of 13 consecutive children who underwent implantation of VAD between 2001 and 2018 in our center. The median age was 12 years (1-17 years), weight was 45 kg (10-82 kg).

Preoperative Venovenous Extracorporal Membrane Oxygenation for Transposition of Great Arteries With Severe Pulmonary Hypertension in a Newborn.

Severe persistent pulmonary hypertension in a newborn combined with transposition of great arteries increases the risk of early death before the arterial switch operation. We report the case of a newborn with transposition of great arteries and ventricular septal defect associated with severe pulmonary hypertension. Profound hypoxemia, despite successful balloon atrial septostomy and conventional supportive measures with mechanical ventilation, inhaled nitric oxide, and inotropes, led to the use of venovenous extracorporeal membrane oxygenation to rapidly stabilize the child preoperatively.

A fatal case of -associated primary coenzyme Q deficiency.

Background: Primary coenzyme Q (CoQ) deficiencies are clinically and genetically heterogeneous group of disorders associated with defects of genes involved in the CoQ biosynthesis pathway. -associated CoQ deficiency is very rare and only two cases have been reported.

Methods And Results: We report a patient with encephalo-myo-nephro-cardiopathy, persistent lactic acidosis, and basal ganglia lesions resulting in early infantile death.

Achieving biventricular circulation in patients with moderate hypoplastic right ventricle in pulmonary atresia intact ventricular septum after transcatheter pulmonary valve perforation.

Objective: Transcatheter valve perforation for pulmonary atresia intact ventricular septum is the standard of care for patients with mild right ventricular hypoplasia. However, its role in moderate right ventricular hypoplasia has been less well defined. We sought to report the long-term outcome of patients with moderate hypoplastic right ventricle who had undergone the procedure.

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.

We reported a family with two male siblings affected with infantile dilated cardiomyopathy (DCM). Extensive evaluation failed to identify the underlying cause for the DCM. Next generation sequencing (NGS) with targeted enrichment identified a hemizygous variant c.

Left ventricular torsional mechanics and diastolic function in congenital heart block with right ventricular pacing.

Background: The effects of right ventricular (RV) pacing on left ventricular (LV) diastolic function are unknown. This study aimed to test the hypothesis that right ventricular (RV) pacing is associated with LV diastolic dysfunction and impairment of LV torsion in children and young adults with congenital heart block.

Methods: Eighteen patients aged 20 ± 7 years and 12 healthy controls aged 19 ± 7 years were studied.

Management of symptomatic congenital tracheal stenosis in neonates and infants by slide tracheoplasty: a 7-year single institution experience.

Objective: Congenital tracheal stenosis (CTS) is rare. When it presents early in life, its management can be challenging. Of the surgical techniques that have been devised to correct long-segment CTS, slide tracheoplasty (ST) appears to be superior.

Impact of temporary interruption of right ventricular pacing for heart block on left ventricular function and dyssynchrony.

Background: The increasing data suggest an association between chronic right ventricular (RV) and left ventricular (LV) dysfunction. We sought to determine the effect of temporary interruption of long-term RV pacing on LV function and mechanical dyssynchrony in children and young adults with complete heart block.

Methods: Twelve patients aged 20.

Impact of right ventricular pacing on three-dimensional global left ventricular dyssynchrony in children and young adults with congenital and acquired heart block associated with congenital heart disease.

The aim of this study was to determine the effect of long-term right ventricular pacing on left ventricular (LV) mechanical dyssynchrony in children and young adults with congenital and acquired heart block. Eighteen patients aged 19 +/- 7 years with congenital heart block (group I), 9 aged 21 +/- 11 years with acquired heart block after congenital heart surgery (group II), and 15 healthy control subjects (group III) were studied. The LV volumes, ejection fractions, and systolic dyssynchrony index (SDI) values, as determined using 3-dimensional echocardiography, were compared among groups.

Left ventricular noncompaction in children.

Objective: Left ventricular noncompaction (LVNC) is an uncommon type of cardiomyopathy in children. We sought to determine the clinical presentations and outcomes of children diagnosed to have LVNC.

Design: The case records of children diagnosed to have LVNC between 1999 and 2007 were reviewed.

Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

Marfan syndrome is an autosomal dominant connective tissue disorder, and mutations in the FBN1 and TGFBR2 genes have been identified in probands with MFS and related phenotypes. Using DHPLC and sequencing, we studied the mutation spectrum in 65 probands with Marfan syndrome and related phenotypes. A total of 24 mutations in FBN1 were identified, of which 19 (nine missense, six frameshift, two nonsense and two affecting splice junctions) were novel.

Cardiovascular symptoms and signs in evaluating cardiac murmurs in children.

Background: The aim of the present study was to determine the usefulness of cardiovascular symptoms and signs in the recognition of significant congenital heart lesions that required surgical or catheter interventions in different pediatric age groups.

Methods: A retrospective chart review was carried out of 110 patients with significant heart anomalies that required surgical or catheter interventions (group I) and 113 children, presenting with cardiac murmurs, with congenital heart conditions not requiring any interventions. (group II).